Table 5 summarizes the results of the association analysis obtained in the Brazilian cases (N = 406) and controls (N = 285) for TGFA and IRF6 markers, according to each cleft subphenotype with dental anomalies. Although genotype/allele frequencies did not significantly differ between cases presenting with tooth agenesis and controls, we found an association between the V274I marker in IRF6 and cleft palate in the presence of impaction of permanent teeth (P<0.0001). Here, TGFA is linked to tooth agenesis.